Advertisement

A Case of Partial Trisomy of Chromosome 8p Associated with Autism

  • Katerina PapanikolaouEmail author
  • Elena Paliokosta
  • Jolanda Gyftodimou
  • Gerassimos Kolaitis
  • Sofia Vgenopoulou
  • Catherine Sarri
  • John Tsiantis
Original Paper

Abstract

We report on a case of a 6-year-old female with partial trisomy 8p(21–23) associated with autism, mild dysmorphic features, and moderate learning disability. Although mental retardation is a common finding in patients with mosaic trisomy 8 or partial trisomy of various regions of chromosome 8, only two cases associated with autism have been reported so far. Also, in our case clinical manifestations were mild compared to other patients with duplication of the same region of chromosome 8. Although there has been no strong evidence for linkage on chromosome 8 in any of the genome-wide linkage studies so far, the possibility that this segment includes genes involved in the etiology of autism should be further explored.

Keywords

Autism Genetics Chromosome 8 Partial trisomy 8p 

References

  1. Bailey, A. J., LeCouteur, A., Gottesman, A. A., Bolton, P., Simonoff, E., & Rutter, M. (1995). Autism as a strongly genetic disorder: Evidence from a British twin study. Psychological Medicine, 25, 63–77.PubMedCrossRefGoogle Scholar
  2. Barber, J. C. K., Joyce, C. A., Collinson, M. N., Nicholson, M. N., Willat, L. R., Dyson, H. M., Bateman, M. S., Green, A. J., Yates, J. R. W., & Dennis, N. R. (1998). Duplication of 8p23.1: A cytogenetic anomaly with no established significance. Journal of Medical Genetics, 35, 491–496.PubMedGoogle Scholar
  3. Blennow, E., & Brondum-Nielsen, K. (1990). Partial monosomy 8p with minimal dysmorphic signs. Journal of Medical Genetics, 27, 327–329.PubMedCrossRefGoogle Scholar
  4. Bolton, P., McDonald, H., Pickles, A., Rios, P., Goode, S., Crowson, M., Bailey, A. J., & Rutter, M. (1994). A case-control family history study of autism. Journal of Child Psychology and Psychiatry, 35, 877–900.PubMedCrossRefGoogle Scholar
  5. Burd, L., Kerbashian, J., Fisher, W., & Martsof, J. T. (1985). A case of autism and mosaic of trisomy 8. Journal of Autism and Developmental Disorders, 15, 351–352.CrossRefPubMedGoogle Scholar
  6. Buxbaum, J. D., Silverman, J. M., Smith, C. J., Kilifarski, M., Reichert, J., Hollander, E., Lawlor, B. A., Fizgerald, M., Greenberg, D. A., & Davis, K. L. (2001). Evidence for a susceptibility gene for autism on chromosome 2 and for genetic heterogeneity. American Journal of Human Genetics, 68, 1514–1520.CrossRefPubMedGoogle Scholar
  7. Claeys, I., Holvoet, M., Eyskens, B., Adriaensens, P., Gewillig, M., Fryns, J. P., & Devriendt, K. (1997). A recognizable behavior phenotype associated with terminal deletions of the short arm of chromosome 8. American Journal of Medical Genetics, 74, 515–520.CrossRefPubMedGoogle Scholar
  8. Collaborative Linkage Study of Autism (1999). An autosomal genomic screen for autism. American Journal of Medical Genetics, 88, 609–615.Google Scholar
  9. De Die-Smulders, C. E. M., Engelen, J. J. M., & Schrander-Stumpel, C. T. R. M. (1995). Inversion duplication of the short arm of chromosome 8: Clinical data on seven patients and review of the literature. American Journal of Clinical Genetics, 59, 369–374.CrossRefGoogle Scholar
  10. Devriendt, K., Matthijs, G., Van Dael, R., Gewillig, M., Eyskens, B., Hjalgrim, H., Dolmer, B., McGaughran, J., Brondum-Nielsen, K., Marynen, P., Fryns, J. P., & Vermeesch, J. R. (1999). Delineation of the critical region for congenital heart defects on chromosome 8p23.1. American Journal of Human Genetics, 64, 1119–1126.CrossRefPubMedGoogle Scholar
  11. Dhooge, C., Roy, N., Craen, M., & Speleman, F. (1994). Direct transmission of a tandem duplication in the short arm of chromosome 8. Clinical Genetics, 45, 36–39.PubMedCrossRefGoogle Scholar
  12. Dunn, L. M., & Dunn, L. M. (1997). Peobody picture vocabulary test. Circle Pines, MN: American Guidance Service.Google Scholar
  13. Engelen, J. J. M., De Die-Smulders, C. E. M., Sijstermans, J. M. J., Meers, L. E. C., Albrechts, J. M. C., & Hamers, A. J. H. (1995). Familial partial trisomy 8p without dysmorphic features and only mild mental retardation. Journal of Clinical Genetics, 32, 792–795.Google Scholar
  14. Engelen, J. J. M., Moog, U., Evers, J. L. H., Dassen, H., Albrechts, J. C. M., & Hamers, A. J. H. (2000). Duplication of chromosome region 8p23.1→p23.3: A benign variant? American Journal of Medical Genetics, 91, 18–21.CrossRefPubMedGoogle Scholar
  15. Feldman, G. L., Weiss, L., & Phelan, M. C., et al. (1993). Inverted duplication of 8p: Ten new patients and review of the literature. American. Journal of Medical Genetics, 47, 100–105.CrossRefPubMedGoogle Scholar
  16. Fombonne, E. (1999). The epidemiology of autism: A review. Psychological Medicine, 29, 769–786.CrossRefPubMedGoogle Scholar
  17. Gibbons, B., Tan, S. Y., & Barber, J. C. (1999). Duplication of 8p with minimal phenotypic effect transmitted from a mother to her two daughters. Journal of Clinical Genetics, 36, 419–422.Google Scholar
  18. Gillberg, C. (1998). Chromosomal disorders and autism. Journal of Autism and Developmental Disorders, 28, 415–425.CrossRefPubMedGoogle Scholar
  19. Hongell, K., Knuutila, S., & Westermarck, T. (1978). Two cases of an abnormal short arm of chromosome 8 (8p+) associated with mental retardation. Clinical Genetics, 13, 237–240.PubMedCrossRefGoogle Scholar
  20. International Molecular Genetic Study of Autism Consortium. (1998). A full genome screen for autism with evidence for linkage to a region on chromosome 7q. Human Molecular Genetics, 7, 571–578.Google Scholar
  21. International Molecular Genetic Study of Autism Consortium. (2001). A genomewide screen for autism: Strong evidence for linkage to chromosomes 2q,7q, and 16q. American Journal of Human Genetics, 69, 570–581.Google Scholar
  22. Jensen, P. K. A., Junien, C., Despoisse, S., Bernsen, A., Thelle, T., Friedrich, U., & de la Chapelle, A. (1982). Inverted tandem duplication of the short arm of chromosome 8: A random de novo structural aberration in man. Localization of the gene for glutathione reductase in subband 8p21.1. Annales Genetiques, 25, 207–211.Google Scholar
  23. Lamb, J. A., Moore, J., Bailey, A., & Monaco, A. P. (2000). Autism: Recent molecular genetic advances. Human Molecular Genetics, 9, 861–868 (erratum Hum Mol Genet 9:1461).CrossRefGoogle Scholar
  24. Lord, C., Risi, S., Lambrecht, L., Cook, E. H. Jr., Leventhal, B. L., DiLavorne, P. C., Pickles, A., & Rutter, M. (2000). Autism diagnostic observation schedule-generic: A standard measure of social and communication deficits associated with the spectrum of autism. Journal of Autism and Developmental Disorders, 30, 205–223.CrossRefPubMedGoogle Scholar
  25. Lord, C., Rutter, M., & Le Couteur, A. (1994). Autism diagnostic interview-revised: A revised version of a diagnostic instrument for caregivers of individuals with possible pervasive developmental disorders. Journal of Autism and Developmental Disorders, 24, 659–685.CrossRefPubMedGoogle Scholar
  26. Moog, U., Engelen, J. J. M., Albrechts, J. C. M., Baars, L. G. M., & Die-Smulders, C. E. M. (2000). Familial dup(8)(p120p21.1): Mild phenotypic effect and review of partial 8p duplications. American Journal of Medical Genetics, 94, 306–310.CrossRefPubMedGoogle Scholar
  27. Pettenati, M. J., Rao, N., Johnson, C., Crandall, K., Huff, O., & Thomas, I. T. (1992). Molecular cytogenetic analysis of a familial 8p23.1 deletion associated with minimal dysmorphic features, seizures, and mild mental retardation. Human Genetics, 89, 602–606.CrossRefPubMedGoogle Scholar
  28. Philippe, A., Martinec, M., Guillourd-bataille, M., Gillberg, C., Rastasm, M., Sponheim, E., Coleman, M., Zapella, M., Aschauer, H., Van malldergerme, L., Penet, C., Feingold, J., Brice, A., Leboyer, M., & the Raris Autism Research International Sibpair Study. (1999). Genome-wide scan for autism susceptibility genes. Human Molecular Genetics, 8, 805–812.Google Scholar
  29. Risch, N., Spiker, D., Lotspeich, L., Nouri, N., Hinds, D., Hallmayer, J., Kalaydjieva, L., et al. (1999). A genomic screen of autism: Evidence for a multilocus etiology. American Journal of Human Genetics, 65, 493–507.CrossRefPubMedGoogle Scholar
  30. Ritvo, E. R., Mason-Brothers, A., Freeman, B. J., Pingree, C., Jenson, W. R., McMahon, W. M., Petersen, P. B., Jorde, L. B., Mo, A., & Ritvo, A. (1990). The UCLA-University of Utah epidemiologic survey of autism: The etiologic role of rare diseases. American Journal of Psychiatry, 147, 1614–1621.PubMedGoogle Scholar
  31. Sklower-Brooks, S., Genovese, M., Gu, H., Duncan, C. J., Shanske, A., & Jenkins, E. C. (1998). Normal adaptive function with learning disability in duplication 8p including band p22. American Journal of Medical Genetics, 78, 114–117.CrossRefPubMedGoogle Scholar
  32. Sparrow, S., Balla, D., & Cicchetti, D. (1984). Vineland adaptive behavior scales. Circle Pines, MN: American Guidance Service.Google Scholar
  33. Starr, E., Kazak Berument, S., Pickles, A., Tomlins, M., Bailey, A., Papanikolaou, K., & Rutter, M. (2001). A family genetic study of autism associated with profound mental retardation. Journal of Autism and Developmental Disorders, 31, 89–96.CrossRefPubMedGoogle Scholar
  34. Steffenburg, S., Gillberg, C., Hellgren, L., Anderson, L., Gillberg, L., Jacoson, G., & Bohman, M. (1989). A twin study of autism in Denmark, Finland, Iceland and Sweden. Journal of Child Psychology and Psychiatry, 30, 405–416.PubMedCrossRefGoogle Scholar
  35. Taylor, K. M., Francke, U., Brown, M. G., George, D. L., & Kaufhold, M. (1977). Inverted tandem (mirror) duplications in human chromosomes: inv dup 8p, 4q, 22q. American Journal of Medical Genetics, 1, 3–19.CrossRefPubMedGoogle Scholar

Copyright information

© Springer Science+Business Media, Inc. 2006

Authors and Affiliations

  • Katerina Papanikolaou
    • 1
    Email author
  • Elena Paliokosta
    • 1
  • Jolanda Gyftodimou
    • 2
  • Gerassimos Kolaitis
    • 1
  • Sofia Vgenopoulou
    • 1
  • Catherine Sarri
    • 2
  • John Tsiantis
    • 1
  1. 1.Department of Child PsychiatryUniversity of AthensAthensGreece
  2. 2.Department of GeneticsInstitute of Child HealthAthensGreece

Personalised recommendations